National Center for Advancing and Translational Sciences Genetic and Rare Diseases Information Center, a program of the National Center for Advancing and Translational Sciences

Hemifacial myohyperplasia

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Other Names:
Hypertrophy and asymmetry of the facial muscles
Categories:
Hemifacial myohyperplasia (HMH) is a developmental disorder that frequently affects the right side of the face and is commonly seen in males. On the affected side of the face, there are usually enlarged tissues that lead to an abnormal jaw shape.[1]  Other features associated with HMH include enlargement of the brain, epilepsy, strabismus, genitourinary system disorders, intellectual disability, and dilation of the pupil on the affected side .[1][2] Asymmetry of the face is more noticeable with age and remains until the end of adolescence when the asymmetry stabilizes.[1][3] The cause of HMH is unknown; but theories suggest an imbalance in the endocrine system, neuronal abnormalities, chromosomal abnormalities, random events in twinning and fetal development, and vascular or lymphatic abnormalities.[2]
Last updated: 7/14/2011

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 
  • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hemifacial myohyperplasia. Click on the link to view a sample search on this topic.

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  1. Pereira-Perdomo DF, Vélez-Forero J, Prada-Madrid R. Hemifacial myohyperplasia sequence. Am J Med Genet A. July 2010; http://www.ncbi.nlm.nih.gov/pubmed/20583183. Accessed 7/13/2011.
  2. Lee S, Sze R, Murakami C, Gruss J, Cunningham M. Hemifacial myohyperplasia: description of a new syndrome. Am J Med Genet. November 2001; http://www.ncbi.nlm.nih.gov/pubmed/11746014. Accessed 7/13/2011.
  3. Miranda RT, Barros LM, Santos LA, Bonan PR, Martelli H Jr. Clinical and imaging features in a patient with hemifacial hyperplasia. J Oral Sci. 2010; http://www.jstage.jst.go.jp/article/josnusd/52/3/509/_pdf. Accessed 7/13/2011.